7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

• Published in: Brain sciences Vol. 10; no. 11; p. 839
• Main Authors: Dentici, Maria Lisa, Bergonzini, Paola, Scibelli, Francesco, Caciolo, Cristina, De Rose, Paola, Cumbo, Francesca, Alesi, Viola, Capolino, Rossella, Zanni, Ginevra, Sinibaldi, Lorenzo, Novelli, Antonio, Tartaglia, Marco, Digilio, Maria Cristina, Dallapiccola, Bruno, Vicari, Stefano, Alfieri, Paolo
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.11.2020; MDPI
• Subjects: Anxiety; anxiety disorder; Autism; Behavior; Brain research; Child & adolescent psychiatry; Cognitive ability; Comparative genomic hybridization; congenital anomalies; Congenital defects; Cryptorchidism; Cytogenetics; Diagnosis; dup7q11.23; duplication; Grammar; Hereditary diseases; intellectual disability; Investigations; Language; Macrocephaly; Magnetic resonance imaging; Motor ability; Sleep; Social anxiety; Williams syndrome; Williams–Beuren Syndrome; Italy; dup7q11.23; anxiety disorder; congenital anomalies; intellectual disability; Williams–Beuren Syndrome; duplication
• ISSN: 2076-3425; 2076-3425
• DOI: 10.3390/brainsci10110839

7q11.23 Microduplication (dup7q11.23) syndrome is a rare autosomal dominant disorder due to a recurring 1.5 to 1.8 Mb duplication of the Williams-Beuren Syndrome critical region. Dup7q11.23 has been associated with several neuro-behavioral characteristics such as low cognitive and adaptive functioning, expressive language impairment, anxiety problems and autistic features. In the present study, we analyze the clinical features of ten individuals in which array-CGH detected dup7q11.23, spanning from 1.4 to 2.1 Mb. The clinical characteristics associated with dup7q11.23 are discussed with respect to its reciprocal deletion. Consistent with previous studies, we confirm that individuals with dup7q11.23 syndrome do not have a homogeneous clinical profile, although some recurring dysmorphic features were found, including macrocephaly, prominent forehead, elongated palpebral fissures, thin lip vermilion and microstomia. Minor congenital malformations include patent ductus arteriosus, cryptorchidism and pes planus. A common finding is hypotonia and joint laxity, resulting in mild motor delay. Neuropsychological and psychodiagnostic assessment confirm that mild cognitive impairment, expressive language deficits and anxiety are recurring neurobehavioral features. New insights into adaptive, psychopathological and neurodevelopmental profiles are discussed.